Variant report

Variant	rs551693883
Chromosome Location	chr2:33491206-33491207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:41463791..41467360-chr2:33489830..33492830,6	K562	blood:
2	chr2:33489408..33492344-chr2:33493804..33495896,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33466400-33497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
4	chr2:33472600-33492800	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:33486600-33493400	Weak transcription	Fetal Kidney	kidney
6	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:33487200-33492200	Weak transcription	Right Atrium	heart
8	chr2:33487800-33492000	Strong transcription	Osteobl	bone
9	chr2:33487800-33502400	Weak transcription	Brain Anterior Caudate	brain
10	chr2:33488000-33491400	Strong transcription	HUVEC	blood vessel
11	chr2:33488200-33492400	Strong transcription	Liver	Liver
12	chr2:33489800-33491600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:33489800-33492600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr2:33489800-33493000	Strong transcription	Aorta	Aorta
15	chr2:33490000-33491400	Strong transcription	Fetal Lung	lung
16	chr2:33490000-33492400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr2:33490000-33493000	Enhancers	HMEC	breast
18	chr2:33490000-33499400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:33490200-33493800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:33490600-33492400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr2:33490600-33492600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:33490600-33515600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:33490800-33491400	Enhancers	NHEK	skin
24	chr2:33491000-33491400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:33491000-33491400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
26	chr2:33491000-33491400	ZNF genes & repeats	NHDF-Ad	bronchial
27	chr2:33491000-33491600	ZNF genes & repeats	Left Ventricle	heart
28	chr2:33491000-33491600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
29	chr2:33491000-33492000	Strong transcription	Fetal Heart	heart
30	chr2:33491000-33492200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:33491000-33492400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr2:33491000-33492400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:33491000-33492400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:33491000-33492400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
35	chr2:33491000-33492400	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr2:33491000-33492400	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr2:33491000-33492400	ZNF genes & repeats	Fetal Stomach	stomach
38	chr2:33491000-33492400	ZNF genes & repeats	Gastric	stomach
39	chr2:33491000-33492400	ZNF genes & repeats	Lung	lung
40	chr2:33491000-33492400	ZNF genes & repeats	Spleen	Spleen
41	chr2:33491000-33492400	ZNF genes & repeats	Dnd41	blood
42	chr2:33491000-33492400	ZNF genes & repeats	NH-A	brain
43	chr2:33491000-33492600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:33491000-33492600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:33491000-33492600	ZNF genes & repeats	Ovary	ovary
46	chr2:33491000-33492600	ZNF genes & repeats	NHLF	lung
47	chr2:33491200-33491400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:33491200-33491400	Genic enhancers	Right Ventricle	heart
49	chr2:33491200-33491600	ZNF genes & repeats	K562	blood
50	chr2:33491200-33491800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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